Assay systems for determination of fetal copy number variation
AssigneeAriosa Diagnostics, Inc.
InventorsJohn Stuelpnagel, Ken Song, Arnold Oliphant, Craig Struble
Life of this patent
Estimating the term…
Abstract
The present invention provides processes for determining accurate risk probabilities for chromosome dosage abnormalities. Specifically, the invention provides non-invasive evaluation of genomic variations through chromosome-selective sequencing and non-host fraction data analysis of maternal samples.
Claims33
A computer-implemented process for determining the presence or absence of a copy number variation in a fetal genomic region, comprising the steps of:
- 1) calculating an estimated dosage of a first fetal genomic region in a maternal sample;
- 2) calculating an estimated dosage of at least a second fetal genomic region in a maternal sample;
- and
- 3) comparing the dosages of the first and second fetal genomic regions to determine the likelihood of a copy number variation in the first genomic region.
The process of claim 7, wherein the presence or absence of a copy number variation of the first genomic region is estimated by interrogating at least fifty polymorphic loci in the first and second genomic regions.
A computer-implemented process to calculate a risk of a fetal aneuploidy comprising:
- estimating the dosage of a first fetal chromosome in a maternal sample;
- estimating the dosage of one or more other fetal chromosomes in the maternal sample;
- calculating a value of the likelihood that a first fetal chromosome is aneuploid by comparing the chromosome dosage of the first fetal chromosome to the chromosome dosage of the one or more other fetal chromosomes;
- calculating a value of the likelihood that the first fetal chromosome is disomic by comparing the chromosome dosage of the first fetal chromosome to the chromosome dosage of the one or more other fetal chromosomes in view of the prior risk of aneuploidy;
- and
- calculating a risk of aneuploidy of the first fetal chromosome based on the calculated values of likelihood.
A computer-implemented process to calculate a risk of a fetal aneuploidy comprising:
- estimating the dosage of a first fetal chromosome in a maternal sample;
- estimating the dosage of one or more other fetal chromosomes in the maternal sample;
- providing data on prior risk of aneuploidy for at least the first fetal chromosome based on extrinsic characteristics;
- calculating a value of the likelihood that a first fetal chromosome is aneuploid by comparing the chromosome dosage of the first fetal chromosome to the chromosome dosage of the one or more other fetal chromosomes in view of the prior risk of aneuploidy;
- calculating a value of the likelihood that the first fetal chromosome is disomic by comparing the chromosome dosage of the first fetal chromosome to the chromosome dosage of the one or more other fetal chromosomes in view of the prior risk of aneuploidy;
- and
- calculating a risk of aneuploidy of the first fetal chromosome based on the calculated values of likelihood.
Dependencies are inferred from the claim text.